Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice.

doi:10.1016/s0161-5890(99)00035-8

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Article

Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice.

Molecular immunology - 1 Feb 1999

Saito S, Nishimura H, Brumeanu T D, Casares S, Stan A C, Honjo T, Bona C A

Abstract excerpt

Fibrillin-1 (Fbn-1) is a ubiquitous protein present in the extracellular matrix of various organs and it is a major component of microfibrils embedded in the core of elastic fibers. In humans, mutations or deletions of the Fbn-1 gene are associated with several genetic diseases. In addition, several microsatellite alleles near Fbn-1 gene were found associated with diffuse scleroderma. In TSK/+ mice, which develop...

Topics

Animals
COS Cells
Cells, Cultured
Extracellular Matrix Proteins
Female
Fibrillin-1
Fibrillins
Fibroblasts
Gene Duplication
Male
Mice
Mice, Inbred C57BL
Mice, Mutant Strains
Microfilament Proteins
Mutation

Source

Open in PubMed

Identifiers

PMID: 10403482
DOI: 10.1016/s0161-5890(99)00035-8

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